A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034520



Internal ID19123742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:62258055..62347501hg38UCSC Ensembl
Innerchr6:62967960..63057406hg19UCSC Ensembl
Innerchr6:63025919..63115365hg18UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg3889447
hg1989447
hg1889447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3657641
Samples
Known GenesKHDRBS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034520
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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